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Article

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

Hormone research - 1 Jan 1996

Rousseau F, Bonaventure J, Legeai-Mallet L, Pelet A, Rozet J M, Maroteaux P, Le Merrer M, Munnich A

Abstract excerpt

Achondroplasia (ACH), the most common cause of chondrodysplasia in man (1 in 15,000 live births), is an autosomal dominant condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. Recently, a gene for ACH has been mapped to chromosome 4p16.3. The genetic interval encompassing the disease gene contains a member of the fibroblast growth factor receptor (FGFR) family which is expressed in...

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Source

Identifiers

PMID: 8742128
DOI: 10.1159/000184768

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.PMID 8742128Read ↗

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